Canonical Allele Identifier: CA10591734

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071019A>C , CM000679.2:g.43071019A>C	GRCh38
NC_000017.10:g.41223036A>C , CM000679.1:g.41223036A>C	GRCh37
NC_000017.9:g.38476562A>C	NCBI36
NG_005905.2:g.146965T>G , LRG_292:g.146965T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.4895T>G MANE Select	NP_009225.1:p.Val1632Gly
ENST00000357654.9:c.4895T>G MANE Select	ENSP00000350283.3:p.Val1632Gly
NM_007294.3:c.4895T>G , LRG_292t1:c.4895T>G	NP_009225.1:p.Val1632Gly
NM_007297.3:c.4754T>G	NP_009228.2:p.Val1585Gly
NM_007297.4:c.4754T>G	NP_009228.2:p.Val1585Gly
NM_007298.3:c.1583T>G	NP_009229.2:p.Val528Gly
NM_007299.3:c.1583T>G	NP_009230.2:p.Val528Gly
NM_007299.4:c.1583T>G	NP_009230.2:p.Val528Gly
NM_007300.3:c.4958T>G	NP_009231.2:p.Val1653Gly
NM_007300.4:c.4958T>G	NP_009231.2:p.Val1653Gly
NR_027676.1:n.5031T>G
NR_027676.2:n.5072T>G
ENST00000352993.7:c.1469T>G	ENSP00000312236.5:p.Val490Gly
ENST00000357654.7:c.4895T>G	ENSP00000350283.3:p.Val1632Gly
ENST00000461221.5:c.*4678T>G	ENSP00000418548.1:n.*4678T>G
ENST00000461574.2:c.4892T>G	ENSP00000417241.2:p.Val1631Gly
ENST00000468300.5:c.1583T>G	ENSP00000417148.1:p.Val528Gly
ENST00000470026.6:c.4895T>G	ENSP00000419274.2:p.Val1632Gly
ENST00000471181.6:c.4958T>G	ENSP00000418960.2:p.Val1653Gly
ENST00000471181.7:c.4958T>G	ENSP00000418960.2:p.Val1653Gly
ENST00000472490.1:n.48T>G
ENST00000473961.6:c.4769T>G	ENSP00000420201.2:p.Val1590Gly
ENST00000476777.6:c.4889T>G	ENSP00000417554.2:p.Val1630Gly
ENST00000477152.6:c.4817T>G	ENSP00000419988.2:p.Val1606Gly
ENST00000478531.5:c.1583T>G	ENSP00000420412.1:p.Val528Gly
ENST00000478531.6:c.1583T>G	ENSP00000420412.2:p.Val528Gly
ENST00000484087.5:c.1208T>G	ENSP00000419481.1:p.Val403Gly
ENST00000484087.6:c.1457T>G	ENSP00000419481.2:p.Val486Gly
ENST00000489037.2:c.4817T>G	ENSP00000420781.2:p.Val1606Gly
ENST00000491747.6:c.1583T>G	ENSP00000420705.2:p.Val528Gly
ENST00000493795.5:c.4754T>G	ENSP00000418775.1:p.Val1585Gly
ENST00000493919.5:c.1445T>G	ENSP00000418819.1:p.Val482Gly
ENST00000493919.6:c.1445T>G	ENSP00000418819.2:p.Val482Gly
ENST00000494123.6:c.4895T>G	ENSP00000419103.2:p.Val1632Gly
ENST00000497488.2:c.4007T>G	ENSP00000418986.2:p.Val1336Gly
ENST00000586385.5:c.5-7068T>G	ENSP00000465818.1:n.5-7068T>G
ENST00000591534.5:c.368T>G	ENSP00000467329.1:p.Val123Gly
ENST00000591849.5:c.-98-20829T>G	ENSP00000465347.1:n.-98-20829T>G
ENST00000618469.2:c.4895T>G	ENSP00000478114.2:p.Val1632Gly
ENST00000634433.2:c.4772T>G	ENSP00000489431.2:p.Val1591Gly
ENST00000644379.1:c.1282T>G
ENST00000644379.2:c.4961T>G	ENSP00000496570.2:p.Val1654Gly
ENST00000644555.2:c.1445T>G	ENSP00000494614.2:p.Val482Gly
ENST00000652672.2:c.4754T>G	ENSP00000498906.2:p.Val1585Gly
ENST00000700182.1:c.1502T>G	ENSP00000514849.1:p.Val501Gly